Incidental Mutation 'IGL02410:Dazl'
ID292278
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dazl
Ensembl Gene ENSMUSG00000010592
Gene Namedeleted in azoospermia-like
SynonymsDaz-like, Tpx2, Dazla, Tpx-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02410
Quality Score
Status
Chromosome17
Chromosomal Location50279394-50293599 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 50293398 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010736]
PDB Structure
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE IN COMPLEX WITH RNA, UUGUUCUU [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE IN COMPLEX WITH MVH RNA, UGUUC [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE IN COMPLEX WITH SYCP3 RNA, UUGUUU [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE RRM DOMAIN OF MOUSE DELETED IN AZOOSPERMIA-LIKE [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000010736
SMART Domains Protein: ENSMUSP00000010736
Gene: ENSMUSG00000010592

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
RRM 41 111 2.16e-19 SMART
low complexity region 125 146 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the depleted in azoospermia-like (DAZL) protein family. Members of this family contain an RNA recognition motif, interact with poly A binding proteins, and may be involved in the initiation of translation. The encoded protein is expressed in the cytoplasm of pluripotent stem cells, and in both male and female germ cells, where it is essential for gametogenesis. Disruption of this gene is associated with infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Males homozygous for a targeted null mutation exhibit sterility with a complete absence of mature germ cells. In mutants, few spermatogonia enter meiosis, and those that do fail to proceed beyond pachytene. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy10 G A 1: 165,510,408 C197Y probably damaging Het
Ano2 A G 6: 125,815,533 probably null Het
Aqr A G 2: 114,136,917 V539A possibly damaging Het
Bnip3 C A 7: 138,898,799 G21C probably damaging Het
Cul1 T A 6: 47,485,014 M37K probably damaging Het
Dsg2 A G 18: 20,602,132 T1056A probably benign Het
Ewsr1 A G 11: 5,093,863 probably benign Het
Fam167b G A 4: 129,578,218 A53V probably benign Het
Fat3 T C 9: 15,997,845 Y2287C probably damaging Het
Gm597 A G 1: 28,778,631 S107P probably benign Het
H2-M10.3 A T 17: 36,366,536 H283Q probably damaging Het
Hectd2 C T 19: 36,595,213 R39* probably null Het
Hnrnph3 A G 10: 63,015,724 probably benign Het
Hps4 T C 5: 112,370,227 V362A probably benign Het
Igkv9-120 A C 6: 68,050,043 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Lamc3 A G 2: 31,905,965 T417A probably damaging Het
Loxhd1 T C 18: 77,402,952 V1307A probably benign Het
Mpdz T C 4: 81,297,493 E1511G probably benign Het
Nprl3 A T 11: 32,267,539 M1K probably null Het
Olfr1501 A G 19: 13,839,131 I14T probably benign Het
Ppp1r15a A G 7: 45,524,055 V443A probably damaging Het
Psmd1 T G 1: 86,077,437 L198V probably damaging Het
Rapgef4 A T 2: 72,226,594 I566F possibly damaging Het
Rbbp8 T A 18: 11,732,212 D719E probably damaging Het
Siah2 T C 3: 58,676,047 R273G probably damaging Het
Siglecg C T 7: 43,408,829 P47S probably damaging Het
Sox6 A G 7: 115,486,744 S621P probably damaging Het
Ttn C A 2: 76,724,934 A30576S probably benign Het
Ttyh1 A G 7: 4,133,899 probably benign Het
Ush2a C T 1: 188,915,997 R4600C probably damaging Het
Usp36 C T 11: 118,276,185 V289M probably damaging Het
Other mutations in Dazl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0063:Dazl UTSW 17 152705859 missense probably damaging 1.00
R3801:Dazl UTSW 17 50281281 missense probably benign 0.44
R3961:Dazl UTSW 17 50288133 missense probably damaging 0.99
R4646:Dazl UTSW 17 50288155 missense probably damaging 1.00
R5310:Dazl UTSW 17 50281283 missense probably damaging 1.00
R5389:Dazl UTSW 17 50288690 missense probably benign 0.25
R5933:Dazl UTSW 17 50287753 critical splice donor site probably null
R6173:Dazl UTSW 17 50287571 missense probably benign 0.05
R7057:Dazl UTSW 17 50293406 start codon destroyed probably null
R7523:Dazl UTSW 17 50287541 missense probably damaging 0.97
R8393:Dazl UTSW 17 50281266 missense probably benign 0.02
Posted On2015-04-16